An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLESPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

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Autosomal"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "

DiseaseIllness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

MUSCLETissue made up of bundles of long, slender cells that contract when stimulated.

SPASTICITYInvoluntary muscle tightness and stiffness that occurs in about two-thirds of people with cerebral palsy and in many who suffer severe head injuries. The medical definition of dystonia is a velocity-dependent, increased resistance to passive muscle stretch. In other words, when a muscle affected by spasticity is stretched by someone else, it is harder to move the muscle than normal, and the faster one pushes, the harder the muscle is to move.

RetardationDelay or halt of any process such as mental or physical development.

Death1. The end of life. The cessation of life. (These common definitions of death ultimately depend upon the definition of life, upon which there is no consensus.) 2. The permanent cessation of all vital bodily functions. (This definition depends upon the definition of "vital bodily functions.") See: Vital bodily functions. 3. The common law standard for determining death is the cessation of all vital functions, traditionally demonstrated by "an absence of spontaneous respiratory and cardiac functions." 4. The uniform determination of death.

FucosidosisAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

NeurologyThe branch of medicine that pertains to the nervous system.

SIMILAR TERMS--------------------------------------

Fucose, GDPA nucleoside diphosphate sugar formed from GDPmannose, which provides fucose for lipopolysaccharides of bacterial cell walls, and for blood group substances and other glycoproteins.

Fucose, Guanosine DiphosphateA nucleoside diphosphate sugar formed from GDPmannose, which provides fucose for lipopolysaccharides of bacterial cell walls, and for blood group substances and other glycoproteins.

FucosidaseAn enzyme that catalyzes the hydrolysis of an alpha L-fucoside to yield an alcohol and L-fucose. Deficiency of this enzyme can cause FUCOSIDOSIS. EC 3.2.1.51.

Fucosidase Deficiency DiseaseAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Fucosidase Deficiency DiseasesAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

FucosidosisAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Fucosidosis Type IAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Fucosidosis, InfantileAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Fucosidosis, JuvenileAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Fucosyl Galactose AcetylgalactosaminyltransferaseAn enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosyl Galactose alpha N AcetylgalactosaminyltransferaseAn enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosyl Galactose alpha-N-AcetylgalactosaminyltransferaseAn enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosyl SSEA 1Carbohydrate antigen which is accumulated in various human cancer tissues and secreted into the blood stream. The carbohydrate moiety can be further modified with fucose or sialic acid. Monoclonal antibodies have been determined which can discriminate each subgroup of this antigen in the sera of cancer patients. Sialyl SSEA-1 antigen is particularly elevated in the sera of patients with a variety of tumors.

Fucosyl SSEA-1Carbohydrate antigen which is accumulated in various human cancer tissues and secreted into the blood stream. The carbohydrate moiety can be further modified with fucose or sialic acid. Monoclonal antibodies have been determined which can discriminate each subgroup of this antigen in the sera of cancer patients. Sialyl SSEA-1 antigen is particularly elevated in the sera of patients with a variety of tumors.

FucosyltransferasesEnzymes catalyzing the transfer of fucose from a nucleoside diphosphate fucose to an acceptor molecule which is frequently another carbohydrate, a glycoprotein, or a glycolipid molecule. Elevated activity of some fucosyltransferases in human serum may serve as an indicator of malignancy. The class includes EC 2.4.1.65; EC 2.4.1.68; EC 2.4.1.69; EC 2.4.1.89.

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Fucosyl SSEA-1Carbohydrate antigen which is accumulated in various human cancer tissues and secreted into the blood stream. The carbohydrate moiety can be further modified with fucose or sialic acid. Monoclonal antibodies have been determined which can discriminate each subgroup of this antigen in the sera of cancer patients. Sialyl SSEA-1 antigen is particularly elevated in the sera of patients with a variety of tumors.

Fucosyl SSEA 1Carbohydrate antigen which is accumulated in various human cancer tissues and secreted into the blood stream. The carbohydrate moiety can be further modified with fucose or sialic acid. Monoclonal antibodies have been determined which can discriminate each subgroup of this antigen in the sera of cancer patients. Sialyl SSEA-1 antigen is particularly elevated in the sera of patients with a variety of tumors.

Fucosyl Galactose alpha N AcetylgalactosaminyltransferaseAn enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosyl Galactose AcetylgalactosaminyltransferaseAn enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosidosis, JuvenileAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Fucosidosis Type II

Fucosidosis, InfantileAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Fucosidosis Type IAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

FucosidosisAn autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Fulminans, PurpuraA form of nonthrombocytopenic purpura due to a hypersensitivity vasculitis associated with a variety of clinical symptoms including urticaria and erythema, arthropathy and arthritis, gastrointestinal symptoms, and renal involvement.

Fulminant Meningococcal Sepsis with Adrenal ApoplexyA condition characterized by the abrupt onset of fever, petechiae, ARTHRALGIA, weakness, and myalgias followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. The syndrome is most often associated with meningococcal septicemia but may occur as a complication of sepsis caused by other organisms, including certain STREPTOCOCCUS species. This disorder may be associated with a prior history of SPLENECTOMY. (From J Emerg Med 1998 Jul-Aug;16(4):643-7)

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